| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
AGK
|
acylglycerol kinase
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
ALDH4A1
|
aldehyde dehydrogenase 4 family, member A1
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
AMT
|
aminomethyltransferase
|
|
ARG1
|
arginase 1
|
|
ASL
|
argininosuccinate lyase
|
|
ATP5E
|
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BTD
|
biotinidase
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CD320
|
CD320 molecule
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTH
|
cystathionine gamma-lyase
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FH
|
fumarate hydratase
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLYCTK
|
glycerate kinase
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HCFC1
|
host cell factor C1
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HOGA1
|
4-hydroxy-2-oxoglutarate aldolase 1
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OXCT1
|
3-oxoacid CoA transferase 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SERAC1
|
serine active site containing 1
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC36A2
|
solute carrier family 36 (proton/amino acid symporter), member 2
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A20
|
solute carrier family 6 (proline IMINO transporter), member 20
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SQSTM1
|
sequestosome 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAT
|
tyrosine aminotransferase
|
|
TCN2
|
transcobalamin II
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
UMPS
|
uridine monophosphate synthetase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
